Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

@article{Jurecka2008ClinicalBA,
  title={Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.},
  author={Agnieszka Jurecka and Marie Zik{\'a}nov{\'a} and Anna Tylki-Szymańska and Jakub Krijt and Anna Bogdańska and Wanda Gradowska and Karolina Mullerova and Jolanta Sykut-Cegielska and Stanislav Kmoch and Ewa Pronicka},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={94 4},
  pages={
          435-42
        }
}
Adenylosuccinate lyase (ADSL) catalyzes two steps in purine nucleotide metabolism-the 8th step in the de novo pathway: conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR), and conversion of adenylosuccinate (S-AMP) to adenylate (AMP) in the purine nucleotide cycle. To date, over 50 patients have been reported suffering from ADSL deficiency. We report all seven so far diagnosed Polish patients with this defect. Most of our patients… CONTINUE READING

Citations

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  • Journal of Inherited Metabolic Disease
  • 2014
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

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  • Journal of Inherited Metabolic Disease
  • 2010
VIEW 3 EXCERPTS
CITES RESULTS
HIGHLY INFLUENCED

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  • Journal of Inherited Metabolic Disease
  • 2009
VIEW 11 EXCERPTS
CITES BACKGROUND & METHODS

References

Publications referenced by this paper.
SHOWING 1-10 OF 44 REFERENCES

Adenylosuccinate lyase deficiency.

  • Molecular genetics and metabolism
  • 2006
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

G

J. Jaeken
  • Van den Berghe, An infantile autistic syndrome characterized by the presence of succinylpurines in body fluids, Lancet 2
  • 1984
VIEW 13 EXCERPTS
HIGHLY INFLUENTIAL

Adenylosuccinate lyase defi­ciency : fi­rst British case

M. Champion A. M. Marinaki, M. A. Kurian, +5 authors L. D. Fairbanks
  • Nucleosides Nucleotides Nucleic Acids
  • 2004

G

A. M. Marinaki, M. Champion, +3 authors M. F. Vincent
  • van den Bergh, J.A. Duley, L.D. Fairbanks, Adenylosuccinate lyase defi­ciency: fi­rst British case, Nucleosides Nucleotides Nucleic Acids 23
  • 2004